Bone Abstracts

Cole-Carpenter syndrome (CCS) is commonly classified as a rare Osteogenesis Imperfecta disorder. This was following the description of two unrelated patients with very similar phenotypes who were subsequently shown to have a heterozygous missense mutation in P4HB. Here, we report a 3-year old female patient who was diagnosed with a severe form of OI. Exome sequencing identified the same missense mutation in P4HB as reported in the original cohort, thus reinfo...

Prof. David Little received his Medical Degree from the University of Sydney where he is Conjoint Professor of Paediatrics and Child Health, specialising in Orthopaedic Surgery. Prof. D Little is Head of Orthopaedic Research and Biotechnology at The Children’s Hospital at Westmead, part of the Sydney Children’s Hospital Network. He has broad clinical interests in Children’s Orthopaedi...

Background: Following supplementation with adequate vitamin D and calcium, healing of vitamin D deficient rickets has generally been demonstrated on radiographic films 3–6 months following the initiation of therapy. However, we report a case that demonstrates radiographic evidence of rapid healing of vitamin D deficient rickets in only 2 weeks after starting therapy.Presenting problem: An 8-month-old African American male presented to the emergency ...

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Tibial dysplasia, which leads to fracture and pseudarthrosis, occurs in around 4% of children with NF1, and also in children with no underlying disorder. Pseudarthrosis of the fibular may or may not be present, or as an isolated entity, as can pseudarthrosis in the forearm (rare). Other bone problems faced by individuals with NF1 are scoliosis (20%), pectus excavatum/carinatum (12%), and sphenoid wing dysplasia (7%). Dural ectasia and plexiform neurofibromas can also affect th...

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Background: Osteoporosis is common in subjects with Duchenne muscular dystrophy (DMD). Studies in paediatric DMD identified a high frequency of fragility fractures but there are no studies in the adult population. Recent updated international standards of care (2018) for children and adults with DMD recommend the following for bone monitoring:- Lateral thoracolumbar spine x-rays to screen for vertebral fracture (1–2 yearly if on glucocorticoid; 2&#1...

Background: Children with inflammatory bowel disease (IBD) have reduced bone mineral density (BMD). The aim of this study was to investigate whether changes in patient’s cellular immune response correlate with reductions in BMD.Method: Children undergoing lower gastrointestinal endoscopy disease were approached with an aim of recruiting 15 patients newly diagnosed with Crohn’s Disease (CD) and 15 healthy controls. Lymphocytes were isolated from...

Maternal vitamin D status has been positively associated with infant bone mass in observational studies. We therefore evaluated whether 1000 IU/day cholecalciferol during pregnancy would lead to greater offspring bone mass at birth, in a UK, multicentre, randomised, double-blind, placebo-controlled trial (MAVIDOS, ISRCTN82927713).At 12 weeks’ gestation, pregnant women with a serum 25-hydroxyvitamin D [25(OH)D] 25-100 nmol/l were randomised to either...

This paper reviews clinical reports of vitamin D deficiency rickets in neonates from 1930 onwards. In 24 reports there was good evidence of maternal deficiency. In some the diagnosis of the rickets led to the identification of symptomatic osteomalacia in the mothers; several had been severe and longstanding. Of the 15 mothers who had assays for serum 25-hydroxyvitamin D (25OHD) 13 had values <25 nmol/l (10 ng/ml) and 10 had values <12.5 nmol/l (5 ng/ml).<p class="a...